Variant report

Variant	rs9261288
Chromosome Location	chr6:30037353-30037354
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:30037349..30040198-chr6:30056751..30058986,2	MCF-7	breast:
2	chr6:30036068..30037732-chr6:30063349..30066200,2	MCF-7	breast:
3	chr6:30037077..30039641-chr6:30068261..30070312,3	MCF-7	breast:

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs12210298	1.00[ASN][1000 genomes]
rs28400886	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9260673	1.00[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs9260679	0.97[EUR][1000 genomes]
rs9260705	0.97[EUR][1000 genomes]
rs9260770	0.97[EUR][1000 genomes]
rs9260802	1.00[EUR][1000 genomes]
rs9260811	1.00[EUR][1000 genomes]
rs9260888	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9260924	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9260927	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9260928	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9260985	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9261007	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9261048	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9261092	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9261100	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9261117	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9261155	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9261166	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9261167	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9261181	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9261190	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9261194	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9261215	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9261232	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9261233	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9261249	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9261260	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9261266	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9261267	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9261280	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9261283	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9261289	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9261308	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9261378	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9261380	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1031115	chr6:29934199-30058223	Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
2	nsv538172	chr6:29934199-30058223	Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
3	nsv432866	chr6:30026321-30080921	Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
4	nsv884049	chr6:30037353-30047403	Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Genic enhancers Flanking Active TSS Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:30035600-30037800	Weak transcription	Gastric	stomach
2	chr6:30035600-30041000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr6:30035800-30037400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
4	chr6:30035800-30038000	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr6:30035800-30038800	Weak transcription	Right Atrium	heart
6	chr6:30036000-30037400	Weak transcription	NHDF-Ad	bronchial
7	chr6:30036000-30037600	Weak transcription	Fetal Kidney	kidney
8	chr6:30036000-30038000	Weak transcription	Brain Substantia Nigra	brain
9	chr6:30036000-30038200	Weak transcription	HUVEC	blood vessel
10	chr6:30036000-30038600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr6:30036000-30038600	Weak transcription	Primary hematopoietic stem cells	blood
12	chr6:30036000-30038600	Weak transcription	NH-A	brain
13	chr6:30036200-30037600	Strong transcription	Fetal Thymus	thymus
14	chr6:30036200-30038000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr6:30036200-30038200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
16	chr6:30036200-30038200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr6:30036200-30038200	Strong transcription	Fetal Muscle Leg	muscle
18	chr6:30036200-30038400	Strong transcription	Fetal Intestine Large	intestine
19	chr6:30036200-30038600	Strong transcription	Thymus	Thymus
20	chr6:30036200-30038800	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr6:30036200-30038800	Strong transcription	Placenta	Placenta
22	chr6:30036200-30039400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr6:30036400-30037400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr6:30036400-30037400	Strong transcription	Monocytes-CD14+_RO01746	blood
25	chr6:30036400-30037600	Strong transcription	Placenta Amnion	Placenta Amnion
26	chr6:30036400-30037800	Weak transcription	K562	blood
27	chr6:30036400-30038000	Strong transcription	Primary monocytes fromperipheralblood	blood
28	chr6:30036400-30038000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr6:30036400-30038000	Strong transcription	Aorta	Aorta
30	chr6:30036400-30038000	Strong transcription	Left Ventricle	heart
31	chr6:30036400-30038000	Strong transcription	Pancreas	Pancrea
32	chr6:30036400-30038000	Strong transcription	Rectal Smooth Muscle	rectum
33	chr6:30036400-30038000	Strong transcription	Sigmoid Colon	Sigmoid Colon
34	chr6:30036400-30038200	Strong transcription	Primary neutrophils fromperipheralblood	blood
35	chr6:30036400-30038200	Strong transcription	Primary B cells from cord blood	blood
36	chr6:30036400-30038200	Strong transcription	Primary T cells from cord blood	blood
37	chr6:30036400-30038200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr6:30036400-30038200	Strong transcription	Adipose Nuclei	Adipose
39	chr6:30036400-30038200	Strong transcription	Liver	Liver
40	chr6:30036400-30038200	Strong transcription	Colonic Mucosa	Colon
41	chr6:30036400-30038200	Strong transcription	Fetal Intestine Small	intestine
42	chr6:30036400-30038200	Strong transcription	Fetal Muscle Trunk	muscle
43	chr6:30036400-30038200	Strong transcription	Fetal Stomach	stomach
44	chr6:30036400-30038200	Strong transcription	Psoas Muscle	Psoas
45	chr6:30036400-30038200	Strong transcription	Rectal Mucosa Donor 29	rectum
46	chr6:30036400-30038200	Strong transcription	Stomach Smooth Muscle	stomach
47	chr6:30036400-30038400	Strong transcription	Primary B cells from peripheral blood	blood
48	chr6:30036400-30038400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
49	chr6:30036400-30038400	Strong transcription	Brain Cingulate Gyrus	brain
50	chr6:30036400-30038600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood

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